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피루베이트 키나제 결핍 글로벌 종단 레지스트리 (PEAK Registry)

2026년 10월 27일 업데이트: Agios Pharmaceuticals, Inc.

This study is an observational (ie, noninterventional), longitudinal, multicenter, global registry for patients with pyruvate kinase (PK) deficiency, a rare nonspherocytic hemolytic anemia.

This Registry will be open for enrollment for 7 years and all enrolled participants will be followed prospectively for a minimum of 2 years, and up to 9 years.

Data will be collected from participating Registry Physicians, participants, and, where appropriate, parents/guardians who have provided informed consent or assent (where relevant) and authorization pursuant to applicable laws and regulations.

Data should include demographic, clinical, and treatment data; and other data of relevance to the management of patients with PK deficiency. Annual chart review and data entry are expected in order to enhance longitudinal understanding of PK deficiency; however, no specific protocol schedule of assessment is required by this Registry protocol.

연구 개요

상태

모집하지 않고 적극적으로

정황

상세 설명

Data will be submitted to the Registry via electronic case report forms (eCRFs). Relevant datasets, such as historical trial data, claims, medical records, or central lab data will be electronically integrated into the Registry or Registry reporting data sets.

Participants of all ages with a confirmed diagnosis of PK deficiency via genetic testing will be eligible to participate in this Registry. Diagnosis may be made on the basis of clinical features consistent with PK deficiency together with the presence of 2 or more PKLR gene mutations.

For novel or indeterminate PKLR gene mutations, participants will be deemed eligible if, in the opinion of the investigator, the reported PKLR gene mutations are sufficient to support a diagnosis of PK deficiency. Pyruvate kinase deficiency-relevant data will be entered by Registry Physicians or their designee for any and all participant visits. Disease parameters (eg, hemoglobin, reticulocyte counts), treatment and management options (splenectomy, transfusions, iron chelation, bone marrow transplant or pharmacological therapies) and resource utilization (eg, hospitalizations) will be evaluated to describe the natural history, treatments and outcomes, variability in clinical care and disease burden in patients with PK deficiency.

As a longitudinal observational study, the PK deficiency Registry may also serve as a data collection platform to address specific research objectives that may emerge over the duration of the study.

All data collection efforts will abide by this protocol and be prospectively disclosed in the Registry informed consent. If new assessments become of interest, they may be addressed via specific substudies (eg, patient-reported outcomes, biobanking), each requiring their own specific protocol and consent approved by Institutional Review Broad/Independent Ethics Committee (IRB/IEC). These studies may utilize a decentralized operational model with remote data capture. An IRB/IEC approved PEAK participant invitation process and participant self-opt-in registration may be utilized where country regulations and site policies allow.

This Registry, with the appropriate participant (and or parent/guardian) consent/assent, may incorporate retrospective data from other properly consented studies done for the purpose of examining the longitudinal natural history of PK deficiency. As necessary, data integration plan(s) will be developed to allow efficient and fit-for-purpose integration of data from other studies or data sets into this Registry.

Separate detailed statistical analysis plans (SAPs), addressing specific objectives, will be developed before the analyses during and at the end of the study. Due to the nature of the observational study, most statistical analyses will focus on descriptive statistics, including estimates and confidence intervals (CI) as appropriate. Additional statistical modeling of the data may be conducted. However, any p-values reported for hypothesis testing will be considered exploratory and therefore hypothesis-generating by nature. All data will be analyzed as collected in the database. Missing data, in general, will not be imputed; the modeling, eg, repeated measures mixed-effect models (MMRM) or generalized linear mixed effect model (GLIMMIX) will make use of all available data in the analyses. Any additional imputation techniques, if deemed necessary, will be discussed in the statistical analysis plan(s).

To ensure compliance with Good Clinical Practice and all applicable regulatory requirements, the Sponsor and its representatives will conduct and manage several plans that will ensure quality control. These will include:

  • A documented sourcing procedure for all representatives and technology managing, collecting, or reporting on Registry data
  • Assurance of FDA 21 CFR Part 11, EU-US Privacy Shield, and equivalent regulations regarding data security, controls, and audit trail of study data
  • Assurance of the European Union regulation 2016/679 describing the appropriate use of personal data in scientific research
  • Practices and methods for the protection of all participant privacy in relation to study data collection
  • A training plan for site initiation and documentation
  • Data entry guidelines that will assist all study sites with the completion of eCRFs
  • A data monitoring and management plan that will outline the processes and procedures for reviewing, querying, and resolving data quality issues with study sites
  • A site monitoring plan for the Sponsor and its representatives that will outline the frequency, requirements, and nature of the site monitoring visits for purposes of insuring data quality.

The Registry will be overseen by a Scientific Steering Committee, comprised of international experts involved in the research, diagnosis, and/or care of patients with PK deficiency. The Scientific Steering Committee's activities may include further defining the objectives and scientific direction of the Registry, advising on additional clinical data to be captured, and facilitating analysis and dissemination of Registry data via medical conferences and peer-reviewed publications.

연구 유형

관찰

등록 (실제)

500

연락처 및 위치

이 섹션에서는 연구를 수행하는 사람들의 연락처 정보와 이 연구가 수행되는 장소에 대한 정보를 제공합니다.

연구 장소

  • 네덜란드
      • Utrecht, 네덜란드, 3508 GA
        • Universitair Medisch Centrum Utrecht
  • 대한민국
      • Seoul, 대한민국
        • The Catholic University of Korea, Seoul St. Mary's Hospital
  • 덴마크
      • Herlev, 덴마크, 2730
        • Copenhagen University Hospital
  • 독일
      • Berlin, 독일, 13353
        • Charite - Universitatsmedizin Berlin
      • Bielefeld, 독일, 33617
        • Evangelisches Krankenhaus Bielefeld gGmbH
      • Heidelberg, 독일, 69120
        • Universitatsklinikum Heidelberg
      • Munich, 독일, 81377
        • Kinder- und Jugendarztpraxis
      • Würzburg, 독일, 97080
        • Universitatsklinikum Wurzburg
  • 미국
    • Arizona
      • Phoenix, Arizona, 미국, 85016
        • Phoenix Childrens Hospital
    • Arkansas
      • Little Rock, Arkansas, 미국, 72205
        • University of Arkansas for Medical Sciences
      • Little Rock, Arkansas, 미국, 72202
        • Arkansas Children's Hospital
    • California
      • Orange, California, 미국, 92868
        • Children's Hospital of Orange County
      • Palo Alto, California, 미국, 94304
        • Stanford University Medical Center
    • Georgia
      • Atlanta, Georgia, 미국, 30342
        • Children's Healthcare of Atlanta
    • Massachusetts
      • Boston, Massachusetts, 미국, 02114
        • Massachusetts General Hospital
      • Boston, Massachusetts, 미국, 02115
        • Boston Children's Hospital
      • Worcester, Massachusetts, 미국, 01655-0002
        • UMass Memorial Medical Center
    • Michigan
      • Detroit, Michigan, 미국, 48201
        • Children's Hospital of Michigan
    • North Carolina
      • Durham, North Carolina, 미국, 27710
        • Duke University Medical Center
    • Pennsylvania
      • Philadelphia, Pennsylvania, 미국, 19104
        • Children's Hospital of Philadelphia
    • Tennessee
      • Memphis, Tennessee, 미국, 38105
        • St Jude Children's Research Hospital
    • Utah
      • Salt Lake City, Utah, 미국, 84113
        • Primary Children's Hospital
    • Vermont
      • Burlington, Vermont, 미국, 05401
        • University of Vermont Medical Center
  • 스위스
      • Lausanne, 스위스, CH 1011
        • Centre Hospitalier Universitaire Vaudois
  • 스페인
      • Barcelona, 스페인, 08035
        • Hospital Universitario Vall d'Hebron - PPDS
      • Barcelona, 스페인, 8041
        • Hospital de La Santa Creu i Sant Pau
      • Madrid, 스페인, 28046
        • Hospital Universitario La Paz
      • Madrid, 스페인, 28009
        • Hospital Infantil Universitario Nino Jesus
      • Tortosa, 스페인, 43500
        • Hospital de Tortosa Verge de la Cinta
    • Barcelona
      • Badalona, Barcelona, 스페인, 08916
        • Hospital Universitario Germans Trias i Pujol
      • Esplugues de Llobregat, Barcelona, 스페인, 08950
        • Hospital Sant Joan de Deu - PIN
  • 아일랜드
      • Dublin, 아일랜드, D08 NHY1
        • St James's Hospital
  • 영국
      • London, 영국, SE5 9RS
        • Kings College Hospital
      • Newcastle upon Tyne, 영국, NE1 4LP
        • The Newcastle Upon Tyne Hospitals NHS Foundation Trust
    • London, City of
      • London, London, City of, 영국, W12 0HS
        • Hammersmith Hospital
  • 이탈리아
      • Milan, 이탈리아, 20122
        • Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico
      • Roma, 이탈리아, 144
        • Ospedale S Eugenio
    • Abruzzo
      • Pescara, Abruzzo, 이탈리아, 65125
        • Presidio Ospedaliero di Pescara
    • Campania
      • Naples, Campania, 이탈리아
        • AOU dell'Universita degli Studi della Campania Luigi Vanvitelli
    • Liguria
      • Genoa, Liguria, 이탈리아, 16128
        • E O Ospedali Galliera
  • 체코
      • Olomouc, 체코, 779 00
        • Fakultni nemocnice Olomouc
      • Prague, 체코, 150 06
        • Fakultni nemocnice v Motole
      • Prague, 체코, 128 20
        • Ustav hematologie a krevni transfuze
  • 캐나다
    • Ontario
      • Hamilton, Ontario, 캐나다, L8N 4A6
        • Saint Josephs Healthcare System
      • Toronto, Ontario, 캐나다, M5G 2C4
        • Toronto General Hospital
    • Quebec
      • Montreal, Quebec, 캐나다, H3T 1C5
        • St. Justine Hospital
  • 태국
      • Bangkok, 태국
        • Siriraj Hospital Mahidol University
  • 터키 (Türkiye)
      • Ankara, 터키 (Türkiye)
        • Hacettepe University Medical Faculty
  • 포르투갈
      • Coimbra, 포르투갈, 3041-853
        • Centro Hospitalar E Universitario de Coimbra EPE
      • Lisbon, 포르투갈, 1169-045
        • Centro Hospitalar Lisboa Central- Hospital Dona Estefania
      • Porto, 포르투갈, 4200-072
        • Centro Hospitalar de Vila Nova de Gaia / Espinho E.P.E
  • 프랑스
      • Paris, 프랑스, 75743
        • Hopital Necker

참여기준

연구원은 적격성 기준이라는 특정 설명에 맞는 사람을 찾습니다. 이러한 기준의 몇 가지 예는 개인의 일반적인 건강 상태 또는 이전 치료입니다.

자격 기준

공부할 수 있는 나이

  • 어린이
  • 성인
  • 고령자

건강한 자원 봉사자를 받아들입니다

아니

연구 대상 성별

모두

샘플링 방법

비확률 샘플

연구 인구

Patients will be recruited or referred by physicians who treat hemolytic anemias at approximately 60 sites in approximately 20 countries.

설명

Inclusion Criteria:

  • Participants of all ages with a confirmed diagnosis of PK deficiency via genetic testing are eligible to enroll;
  • Participants will be considered for enrollment on the basis of clinical features consistent with PK deficiency together with the presence of 2 or more PKLR gene mutations. For novel or indeterminate PKLR gene mutations, participants will be deemed eligible if, in the opinion of the investigator, the reported PKLR gene mutations are sufficient to support a diagnosis of PK deficiency;
  • The participant or the parent/guardian of the participant must be willing and able to give written informed consent and/or assent. E-consent or remote consent may be utilized where permissible as applicable if country regulations and site policies allow.

공부 계획

이 섹션에서는 연구 설계 방법과 연구가 측정하는 내용을 포함하여 연구 계획에 대한 세부 정보를 제공합니다.

연구는 어떻게 설계됩니까?

디자인 세부사항

  • 관찰 모델: COHORT
  • 시간 관점: PROSPECTIVE

코호트 및 개입

그룹/코호트
PKD Diagnosed

Participants diagnosed with PK deficiency by the presence of 2 or more PKLR gene mutations as well as clinical features.

연구는 무엇을 측정합니까?

주요 결과 측정

결과 측정
측정값 설명
기간
Clinical Course of PK Deficiency
기간: 9 years

To develop an understanding of the longitudinal clinical implications of PK deficiency, including disease natural history, treatments and outcomes, and variability in clinical care and disease burden.
9 years

2차 결과 측정

결과 측정
측정값 설명
기간
Severity of Disease
기간: 9 years

To understand the prevalence, incidence, and severity of complications associated with PK deficiency.
9 years
Disease Impact on Pregnancy
기간: 9 years

To evaluate pregnancy outcomes.
9 years
Clinical Management Assistance
기간: 9 years

To provide a source of longitudinal data to assist physicians with clinical management of individual patients.
9 years
Global Repository
기간: 9 years

To act as a global repository for potential data from other properly consented PK deficiency-related studies to support aggregate and comparative analyses.
9 years

기타 결과 측정

결과 측정
측정값 설명
기간
Genetic
기간: 9 years

To examine a possible correlation between PKLR genotype and PK deficiency clinical phenotype.
9 years

공동 작업자 및 조사자

여기에서 이 연구와 관련된 사람과 조직을 찾을 수 있습니다.

스폰서

Agios Pharmaceuticals, Inc.

수사관

  • 연구 의자: Eva Gallagher, VP, Medical Affairs, Agios Pharmaceuticals, Inc.

간행물 및 유용한 링크

연구에 대한 정보 입력을 담당하는 사람이 자발적으로 이러한 간행물을 제공합니다. 이것은 연구와 관련된 모든 것에 관한 것일 수 있습니다.

일반 간행물

유용한 링크

연구 기록 날짜

이 날짜는 ClinicalTrials.gov에 대한 연구 기록 및 요약 결과 제출의 진행 상황을 추적합니다. 연구 기록 및 보고된 결과는 공개 웹사이트에 게시되기 전에 특정 품질 관리 기준을 충족하는지 확인하기 위해 국립 의학 도서관(NLM)에서 검토합니다.

연구 주요 날짜

연구 시작 (실제)

2018년 4월 23일

기본 완료 (추정된)

2027년 5월 31일

연구 완료 (추정된)

2027년 5월 31일

연구 등록 날짜

최초 제출

2018년 3월 22일

QC 기준을 충족하는 최초 제출

2018년 3월 22일

처음 게시됨 (실제)

2018년 3월 29일

연구 기록 업데이트

마지막 업데이트 게시됨 (실제)

2026년 10월 28일

QC 기준을 충족하는 마지막 업데이트 제출

2026년 10월 27일

마지막으로 확인됨

2026년 10월 1일

추가 정보

이 연구와 관련된 용어

키워드

추가 관련 MeSH 약관

기타 연구 ID 번호

  • AG348-C-008

개별 참가자 데이터(IPD) 계획

개별 참가자 데이터(IPD)를 공유할 계획입니까?

미정

약물 및 장치 정보, 연구 문서

미국 FDA 규제 의약품 연구

아니

미국 FDA 규제 기기 제품 연구

아니

이 정보는 변경 없이 clinicaltrials.gov 웹사이트에서 직접 가져온 것입니다. 귀하의 연구 세부 정보를 변경, 제거 또는 업데이트하도록 요청하는 경우 register@clinicaltrials.gov. 문의하십시오. 변경 사항이 clinicaltrials.gov에 구현되는 즉시 저희 웹사이트에도 자동으로 업데이트됩니다. .

구독하다